Abstract
This report concerns a Japanese family with genetically confirmed SCA 6, including
an autopsy case, and a review of Japanese autopsy cases of autosomal dominant cortical
cerebellar atrophy (ADCCA). The proband (Case 1) was a Japanese woman. She developed
gait disturbance at age 62. The father and younger sister (Case 2) had the same disorder.
She died at age 67 due to subarachnoid hemorrhage. Neuropathological examination revealed
severe loss of Purkinje cells in the cerebellum, prominently in the dorsal vermis,
and absence of neuronal loss in the inferior olives. Molecular genetic study showed
the CAG-repeat expansion of SCA 6 gene. The younger sister (Case 2) developed gait
disturbance at age 62. Neurological examination at age 66 revealed cerebellar signs
without sensory disturbance. Neuroimaging at this time showed cerebellar atrophy,
prominently in the vermis. She died of multiple myeloma at age 66. A neuropathological
review of Japanese autopsy cases of ADCCA showed that there are two patterns in the
distribution of cerebellar cortical lesions of Japanese patients with ADCCA. The distribution
of cerebellar cortical lesions in genetically confirmed Japanese patients with SCA
6 is more prominent in the vermis than in the hemisphere.
Keywords
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Article info
Publication history
Accepted:
May 14,
1998
Received:
March 19,
1998
Identification
Copyright
© 1998 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
